Description
This panel contains genes that cause conditions where rhabdomyolysis, exercise intolerance, and metabolic myopathy are a presenting or prominent feature. It was developed and maintained by the Royal Melbourne Hospital. It is a consensus panel used by VCGS.

Depending on the clinical features present, consider applying additional panels such as Mitochondrial Disorders or the Myopathy Superpanel.

This panel has been compared against the Genomics England PanelApp 'Rhabdomyolysis and metabolic muscle disorders' panel V1.42 on 8/10/2020, with all discrepancies resolved and reciprocal feedback provided to Genomics England.

23 reviewers

  • Kristin Rigbye (Victorian Clinical Genetics Services)

  • Sebastian Lunke (Victorian Clinical Genetics Services)

  • Sarah Donoghue (Royal Children's Hospital)

  • Paul De Fazio (Victorian Clinical Genetics Services)

  • Eleanor Williams (Genomics England)

  • Arina Puzriakova (Genomics England)

  • Samantha Ayres (Victorian Clinical Genetics Services)

  • Danielle Ariti (University of Melbourne)

  • Manny Jacobs (Victorian Clinical Genetics Services)

  • Mark Cleghorn (Royal Melbourne Hospital)

  • Teresa Zhao (Victorian Clinical Genetics Services)

  • Ain Roesley (Victorian Clinical Genetics Services)

  • Michelle Torres (Victorian Clinical Genetics Services)

  • Chirag Patel (Genetic Health Queensland)

  • Sangavi Sivagnanasundram (Melbourne Health)

  • Crystle Lee (Victorian Clinical Genetics Services)

  • Elena Savva (Victorian Clinical Genetics Services)

  • Ee Ming Wong (Victorian Clinical Genetics Services)

  • Chern Lim (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Krithika Murali (Victorian Clinical Genetics Services)

  • Belinda Chong (Victorian Clinical Genetics Services)

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

104 Entities

104 reviewed, 85 green

List Entity Reviews Mode of inheritance Details
104 Entitiess
Green Green List (high evidence)
AARS2
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Other
Phenotypes
  • Combined oxidative phosphorylation deficiency 8 MIM#614096
Tags
Green Green List (high evidence)
ABHD5
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Dorfman-Chanarin disease MONDO:0010155
Tags
Green Green List (high evidence)
ACAD9
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex I deficiency due to ACAD9 deficiency 611126
Tags
  • treatable
Green Green List (high evidence)
ACADM
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Acyl-CoA dehydrogenase, medium chain, deficiency of 201450
  • Rhabdomyolysis
Tags
  • treatable
Green Green List (high evidence)
ACADVL
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • VLCAD deficiency 201475
Tags
  • treatable
Green Green List (high evidence)
AGK
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Sengers Syndrome (MIM#212350
  • MONDO:0008922)
Tags
Green Green List (high evidence)
AGL
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Glycogen storage disease IIIa 232400
  • Glycogen storage disease IIIb 232400
Tags
Green Green List (high evidence)
AHCY
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MIM#613752
Tags
Green Green List (high evidence)
AIFM1
4 reviews
3 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review
  • Expert Review Green
  • Other
Phenotypes
  • Combined oxidative phosphorylation deficiency 6 (COXPD6) (MIM#300816)
  • Encephalamyopathy, Mitochondrial, X-Linked
Tags
Green Green List (high evidence)
ALDOA
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Glycogen storage disease XII 611881
Tags
Green Green List (high evidence)
ANO5
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Miyoshi muscular dystrophy 3 613319
  • Muscular dystrophy, limb-girdle, type 2L 611307
Tags
Green Green List (high evidence)
ATP2A1
4 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Brody myopathy, MIM# 601003
Tags
Green Green List (high evidence)
C1QBP
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Progressive external opthalmoplegia
  • mitochondrial myopathy
Tags
Green Green List (high evidence)
CACNA1S
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • {Malignant hyperthermia susceptibility 5}, 601887
Tags
Green Green List (high evidence)
CASQ1
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • Myopathy, vacuolar, with CASQ1 aggregates MIM#616231
Tags
Green Green List (high evidence)
CAV3
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Muscular dystrophy, limb-girdle, type IC 607801
  • Rippling muscle disease 606072
  • Myopathy, distal, Tateyama type 614321
Tags
Green Green List (high evidence)
CHCHD10
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • autosomal dominant mitochondrial myopathy with exercise intolerance MONDO:0014532
Tags
Green Green List (high evidence)
COQ8A
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Coenzyme Q10 deficiency, primary, 4 MIM#612016
Tags
  • treatable
Green Green List (high evidence)
CPT2
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Literature
  • NHS GMS
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • CPT II deficiency, myopathic, stress-induced (exercise intolerance and rhabdomyolysis, late onset) 255110
Tags
  • treatable
Green Green List (high evidence)
DGUOK
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880
  • Portal hypertension, noncirrhotic, 1, MIM# 617068
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, MIM# 617070
Tags
Green Green List (high evidence)
DMD
4 reviews
3 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Becker muscular dystrophy 300376
Tags
Green Green List (high evidence)
DNA2
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 MIM#615156
Tags
Green Green List (high evidence)
DTNA
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Muscular dystrophy, MONDO:0020121, DTNA-related
Tags
Green Green List (high evidence)
DYSF
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2B 253601
  • Myopathy, distal, with anterior tibial onset 606768
  • Miyoshi muscular dystrophy 1 254130
Tags
Green Green List (high evidence)
ENO3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Glycogen storage disease XIII 612932
Tags
Green Green List (high evidence)
ETFA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Glutaric acidemia IIA 231680
Tags
  • treatable
Green Green List (high evidence)
ETFDH
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Glutaric acidemia IIC 231680
Tags
  • treatable
Green Green List (high evidence)
FASTKD2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Other
Phenotypes
  • Combined oxidative phosphorylation deficiency 44 (MIM#618855)
Tags
Green Green List (high evidence)
FDX2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MIM#251900
Tags
Green Green List (high evidence)
FKRP
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155
Tags
Green Green List (high evidence)
FLAD1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency MIM#255100
Tags
Green Green List (high evidence)
GAA
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Glycogen storage disease II (MIM#232300)
Tags
Green Green List (high evidence)
GBE1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Glycogen storage disease IV, MIM# 232500
  • Polyglucosan body disease, adult form MIM#263570
Tags
Green Green List (high evidence)
GFER
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Other
Phenotypes
  • Myopathy, mitochondrial progressive, with congenital cataract and developmental delay (MIM#613076)
Tags
Green Green List (high evidence)
GMPPB
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 MIM#615352
  • Limb myalgia
  • exercise intolerance
  • myoglobinuria
Tags
Green Green List (high evidence)
GUK1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mitochondrial DNA depletion syndrome 21, MIM# 621071
Tags
Green Green List (high evidence)
GYG1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • ?Glycogen storage disease XV 613507
  • Polyglucosan body myopathy 2 616199
Tags
Green Green List (high evidence)
GYS1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Glycogen storage disease 0, muscle 611556
Tags
Green Green List (high evidence)
HADHA
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • LCHAD deficiency MIM#609016
  • Trifunctional protein deficiency MIM#609015
Tags
  • treatable
Green Green List (high evidence)
HADHB
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Trifunctional protein deficiency MIM#609015
Tags
  • treatable
Green Green List (high evidence)
HMBS
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Porphyria, acute intermittent MIM#176000
Tags
Green Green List (high evidence)
ISCU
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Myopathy with lactic acidosis, hereditary, MIM# 255125
Tags
Green Green List (high evidence)
LAMP2
1 review
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Danon disease, MIM# 300257
  • MONDO:0010281
Tags
Green Green List (high evidence)
LDHA
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Glycogen storage disease XI, MIM# 612933
Tags
Green Green List (high evidence)
LPIN1
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Myoglobinuria, acute recurrent, autosomal recessive 268200
Tags
Green Green List (high evidence)
MAN2B1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Alpha-mannosidosis MONDO:0009561
Tags
Green Green List (high evidence)
MGME1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert Review Green
  • Other
  • Victorian Clinical Genetics Services
Phenotypes
  • mitochondrial DNA depletion syndrome 11 MONDO:0014039
Tags
Green Green List (high evidence)
MLIP
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MIM# 620138
Tags
Green Green List (high evidence)
OBSCN
3 reviews
1 green 2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Rhabdomyolysis, MONDO:0005290, OBSCN-related
Tags
Green Green List (high evidence)
OPA1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy MONDO:0007429
Tags
Green Green List (high evidence)
PFKM
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Glycogen storage disease VII, MIM# 232800
Tags
Green Green List (high evidence)
PGAM2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Glycogen storage disease X, MIM# 261670
Tags
Green Green List (high evidence)
PGK1
2 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Phosphoglycerate kinase 1 deficiency 300653
  • MONDO:0010392
Tags
Green Green List (high evidence)
PGM1
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type It, MIM# 614921
Tags
  • treatable
Green Green List (high evidence)
PHKA1
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscle glycogenosis, MIM# 300559
Tags
Green Green List (high evidence)
PNPLA2
3 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Neutral lipid storage disease with myopathy MIM#610717
Tags
Green Green List (high evidence)
POLG
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662
  • Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459
  • Progressive external ophthalmoplegia, autosomal dominant 1 157640
  • Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700
  • Progressive external ophthalmoplegia, autosomal recessive 1 258450
Tags
Green Green List (high evidence)
POLG2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MIM# 610131
Tags
Green Green List (high evidence)
PRKAG2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Wolff-Parkinson-White syndrome 194200
  • Cardiomyopathy, hypertrophic 6 600858
  • Glycogen storage disease of heart, lethal congenital 261740
Tags
Green Green List (high evidence)
PUS1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • myopathy, lactic acidosis, and sideroblastic anemia 1 MONDO:0024553
Tags
Green Green List (high evidence)
PYGM
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Glycogen storage disease V McArdle disease 232600 AR
Tags
Green Green List (high evidence)
RBCK1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Polyglucosan body myopathy 1 with or without immunodeficiency 615895
Tags
Green Green List (high evidence)
RMND1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Other
Phenotypes
  • Combined oxidative phosphorylation defect type 11 MONDO:0013969
Tags
Green Green List (high evidence)
RRM2B
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075
  • Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077
Tags
Green Green List (high evidence)
RYR1
3 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • {Malignant hyperthermia susceptibility 1}, 145600
  • Central core disease, 117000
  • King-Denborough syndrome, 145600
  • Neuromuscular disease, congenital, with uniform type 1 fiber, 117000
  • Minicore myopathy with external ophthalmoplegia, 255320
Tags
Green Green List (high evidence)
SCN4A
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Paramyotonia congenita, 168300
  • Myotonia congenita, atypical, acetazolamide-responsive, 608390
  • Hypokalemic periodic paralysis, type 2, 613345
  • Myasthenic syndrome, congenital, 16, 614198
  • Hyperkalemic periodic paralysis, type 2, 170500
Tags
Green Green List (high evidence)
SCO2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Other
Phenotypes
  • cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 MONDO:0011451
Tags
Green Green List (high evidence)
SGCA
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099
Tags
Green Green List (high evidence)
SIL1
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Marinesco-Sjogren syndrome 248800
Tags
Green Green List (high evidence)
SLC22A5
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • NHS GMS
  • Royal Melbourne Hospital
Phenotypes
  • Carnitine deficiency, systemic primary 212140
Tags
  • treatable
Green Green List (high evidence)
SLC25A20
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Carnitine-acylcarnitine translocase deficiency MIM#212138
Tags
Green Green List (high evidence)
SLC25A32
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • Exercise intolerance, riboflavin-responsive MONDO:0014795
Tags
Green Green List (high evidence)
SLC25A4
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR MIM#615418
Tags
Green Green List (high evidence)
SLC52A2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Brown-Vialetto-van Laere syndrome 2 MONDO:0013867
Tags
Green Green List (high evidence)
SLC52A3
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Brown-Vialetto-van Laere syndrome 1 MONDO:0024537
Tags
Green Green List (high evidence)
SUCLA2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073
Tags
Green Green List (high evidence)
SUCLG1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Other
Phenotypes
  • mitochondrial DNA depletion syndrome 9 MONDO:0009504
Tags
Green Green List (high evidence)
TAMM41
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Other
Phenotypes
  • Combined oxidative phosphorylation deficiency-56 (COXPD56), MIM#620139
Tags
Green Green List (high evidence)
TANGO2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878
Tags
Green Green List (high evidence)
TAZ
3 reviews
3 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Barth syndrome MIM#302060
Tags
Green Green List (high evidence)
TK2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560
Tags
Green Green List (high evidence)
TMEM126B
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • mitochondrial complex 1 deficiency, nuclear type 29 MONDO:0032633
Tags
Green Green List (high evidence)
TSFM
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined oxidative phosphorylation deficiency 3 610505
Tags
Green Green List (high evidence)
TWNK
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 MIM#609286
Tags
Green Green List (high evidence)
YARS2
3 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Myopathy, lactic acidosis, and sideroblastic anemia 2 MIM#613561
Tags
Amber Amber List (moderate evidence)
ASPH
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Exertional heat illness
  • malignant hyperthermia susceptibility, MONDO:0018493, ASPH-related
Tags
Amber Amber List (moderate evidence)
CHKB
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • megaconial type congenital muscular dystrophy MONDO:0011246
  • recurrent rhabdomyolysis
  • CHKB-Related Muscular Dystrophy
Tags
Amber Amber List (moderate evidence)
ETFB
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Glutaric acidemia IIB 231680
Tags
Amber Amber List (moderate evidence)
PACSIN3
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Myopathy, MONDO:0005336, PACSIN3-related
Tags
Amber Amber List (moderate evidence)
SLC52A1
3 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Maternal riboflavin deficiency MONDO:0014013
Tags
Amber Amber List (moderate evidence)
TNNT1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Nemaline myopathy 5, Amish type MIM#605355
Tags
Amber Amber List (moderate evidence)
TRPV1
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Exertional heat stroke
  • rhabdomyolysis
Tags
Red Red List (low evidence)
AMACR
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • rhabdomyolysis
Tags
Red Red List (low evidence)
AMPD1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Myopathy due to myoadenylate deaminase deficiency 615511
  • Rhabdomyolysis
Tags
  • disputed
Red Red List (low evidence)
COL4A1
4 reviews
2 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Red
Phenotypes
  • Recurrent rhabdomyolysis
  • infections
  • hypertrophic cardiomyopathy.
Tags
Red Red List (low evidence)
FKTN
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800
  • Fukuyama congenital muscular dystrophy
Tags
Red Red List (low evidence)
KCNJ11
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Hyperinsulinemic hypoglycemia, familial, 2 MIM#601820
Tags
Red Red List (low evidence)
MYH1
2 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • rhabdomyolysis, MONDO:0005290
Tags
Red Red List (low evidence)
MYH3
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • paresthesia
  • rhabdomyolysis
Tags
Red Red List (low evidence)
PHKB
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750
Tags
Red Red List (low evidence)
TRAPPC2L
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis, 618331
Tags
  • founder
Red Red List (low evidence)
TSEN54
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Red
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • ?Pontocerebellar hypoplasia type 5 610204
  • Pontocerebellar hypoplasia type 4 225753
  • Pontocerebellar hypoplasia type 2A 277470
Tags
Red Red List (low evidence)
TTN
3 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
  • Expert Review Red
Phenotypes
  • Congenital titinopathy
  • exercise intolerance
Tags
Red Red List (low evidence)
TYMP
3 reviews
2 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) 612073
Tags

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